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MCID: PLY006
MIFTS: 57

Polydactyly

Categories: Bone diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Polydactyly

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MalaCards integrated aliases for Polydactyly:

Name: Polydactyly 58 12 77 54 30 56 6 45 15 41
Polydactyly, Postaxial 45 74
Non-Syndromic Polydactyly 54
Postaxial Polydactyly 12
Polydactyly Postaxial 77
Supernumerary Digits 54
Supernumerary Digit 12
Polydactylism 54
Extra Digits 54
Hyperdactyly 54
Polydactylia 54

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:1148
OMIM 58 603596
ICD9CM 36 755.0 755.00
NCIt 51 C87110
SNOMED-CT 69 74537000
ICD10 34 Q69 Q69.9
MedGen 43 C0152427
Sources

Summaries for Polydactyly

About this section
NIH Rare Diseases : 54 Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in association with other birth defects and cognitive abnormalities as part of a genetic syndrome. In some cases, the extra digits may be well-formed and functional. Surgery may be considered especially for poorly formed digits or very large extra digits. Surgical management depends greatly on the complexity of the deformity.

MalaCards based summary : Polydactyly, also known as polydactyly, postaxial, is related to polydactyly, preaxial ii and polydactyly, postaxial, type a1. An important gene associated with Polydactyly is MKS1 (MKS Transition Zone Complex Subunit 1), and among its related pathways/superpathways are Signaling by Hedgehog and Organelle biogenesis and maintenance. The drugs Hydroxocobalamin and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 Polydactyly or polydactylism (from Greek, Modern πολύς (polys), meaning ''many'', and δάκτυλος... more...

Description from OMIM: 603596
Sources

Related Diseases for Polydactyly

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Diseases in the Polydactyly family:

Central Polydactyly

Diseases related to Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 449)
# Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial ii 34.2 LMBR1 SHH
2 polydactyly, postaxial, type a1 34.1 GLI3 ZNF141
3 tibia, hypoplasia or aplasia of, with polydactyly 34.0 LMBR1 SHH
4 short-rib thoracic dysplasia 1 with or without polydactyly 33.5 DYNC2H1 DYNC2LI1 WDR34 WDR35 WDR60
5 short-rib thoracic dysplasia 3 with or without polydactyly 33.5 DYNC2H1 DYNC2LI1 NEK1 TCTEX1D2 WDR34 WDR35
6 laurin-sandrow syndrome 32.8 LMBR1 MIPOL1 SHH
7 pallister-hall syndrome 32.7 GLI3 MKKS SHH
8 asphyxiating thoracic dystrophy 32.5 DYNC2H1 TCTEX1D2 WDR34 WDR35 WDR60
9 ellis-van creveld syndrome 32.2 DYNC2H1 DYNC2LI1 IFT81 NEK1 WDR35
10 syndactyly, type iv 32.0 LMBR1 SHH
11 mckusick-kaufman syndrome 31.8 BBS1 BBS2 BBS4 GLI3 MKKS
12 bardet-biedl syndrome 17 31.5 BBS1 BBS2 BBS4 SHH
13 hydrolethalus syndrome 1 31.4 BBS2 BBS4 MKS1 SHH
14 bardet-biedl syndrome 4 31.2 BBS1 BBS2 BBS4
15 bardet-biedl syndrome 3 31.1 BBS1 BBS2 BBS4
16 meckel syndrome, type 1 31.1 BBS1 BBS4 MKS1
17 bardet-biedl syndrome 6 30.9 BBS1 BBS2 BBS4 MKKS
18 bardet-biedl syndrome 8 30.7 BBS1 BBS2 BBS4 TTC8
19 bardet-biedl syndrome 1 30.6 BBS1 BBS2 BBS4 MKKS
20 bardet-biedl syndrome 13 30.5 BBS1 BBS2 BBS4 MKS1
21 bardet-biedl syndrome 15 30.5 BBS2 BBS4 MKKS
22 bardet-biedl syndrome 18 30.5 BBS1 BBS2 BBS4 TTC8
23 bardet-biedl syndrome 30.2 BBS1 BBS2 BBS4 MKKS MKS1 TTC8
24 radial hemimelia 30.0 LMBR1 SHH
25 cleft lip/palate 29.0 DYNC2H1 DYNC2LI1 IFT81 NEK1 TCTEX1D2 WDR34
26 short-rib thoracic dysplasia 6 with or without polydactyly 12.6
27 polydactyly, preaxial i 12.6
28 short-rib thoracic dysplasia 7 with or without polydactyly 12.5
29 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.5
30 polydactyly, preaxial iv 12.5
31 short-rib thoracic dysplasia 10 with or without polydactyly 12.5
32 short-rib thoracic dysplasia 8 with or without polydactyly 12.4
33 polydactyly, preaxial iii 12.4
34 short-rib thoracic dysplasia 11 with or without polydactyly 12.4
35 short-rib thoracic dysplasia 14 with polydactyly 12.4
36 short-rib thoracic dysplasia 19 with or without polydactyly 12.4
37 short-rib thoracic dysplasia 15 with polydactyly 12.4
38 short-rib thoracic dysplasia 4 with or without polydactyly 12.4
39 short-rib thoracic dysplasia 5 with or without polydactyly 12.4
40 short-rib thoracic dysplasia 16 with or without polydactyly 12.4
41 short-rib thoracic dysplasia 18 with polydactyly 12.4
42 dandy-walker malformation with postaxial polydactyly 12.4
43 preaxial deficiency, postaxial polydactyly, and hypospadias 12.4
44 short-rib thoracic dysplasia 2 with or without polydactyly 12.4
45 polydactyly, postaxial, type a7 12.4
46 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 12.4
47 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 12.4
48 polydactyly, postaxial, type a6 12.3
49 polydactyly, postaxial, type a9 12.3
50 tibia absent polydactyly arachnoid cyst 12.3

Graphical network of the top 20 diseases related to Polydactyly:



Diseases related to Polydactyly
Sources

Symptoms & Phenotypes for Polydactyly

About this section

Clinical features from OMIM:

603596

GenomeRNAi Phenotypes related to Polydactyly according to GeneCards Suite gene sharing:

27 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.83 ZNF141
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.83 NEK1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.83 BBS1 NEK1 ZNF141
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.83 ZNF141
5 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.83 NEK1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.83 ZNF141
7 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.83 BBS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.83 NEK1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.83 BBS1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.83 ZNF141
11 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.83 ZNF141
12 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.83 NEK1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.83 NEK1
14 Increased vaccinia virus (VACV) infection GR00249-S 9.62 BBS1 BBS2 BBS4 CCND2 DYNC2H1 DYNC2LI1

MGI Mouse Phenotypes related to Polydactyly:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI3
2 growth/size/body region MP:0005378 10.27 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI3
3 cardiovascular system MP:0005385 10.25 BBS1 BBS4 CCND2 DYNC2H1 DYNC2LI1 GLI3
4 mortality/aging MP:0010768 10.25 BBS1 BBS4 CCND2 DYNC2H1 DYNC2LI1 GLI3
5 nervous system MP:0003631 10.22 BBS1 BBS2 BBS4 CCND2 DYNC2H1 DYNC2LI1
6 craniofacial MP:0005382 10.18 BBS1 BBS4 DYNC2H1 GLI3 MKKS MKS1
7 limbs/digits/tail MP:0005371 10.16 BBS1 BBS2 DYNC2H1 DYNC2LI1 GLI3 LMBR1
8 digestive/alimentary MP:0005381 10.05 BBS2 BBS4 DYNC2H1 GLI3 MKS1 SHH
9 renal/urinary system MP:0005367 10.02 BBS1 BBS2 BBS4 DYNC2H1 GLI3 MKS1
10 reproductive system MP:0005389 9.97 BBS1 BBS2 BBS4 CCND2 GLI3 MKKS
11 hearing/vestibular/ear MP:0005377 9.95 BBS1 BBS4 GLI3 MKKS MKS1 SHH
12 respiratory system MP:0005388 9.91 BBS1 BBS4 DYNC2H1 GLI3 MKKS MKS1
13 skeleton MP:0005390 9.7 DYNC2H1 GLI3 LMBR1 MKS1 NEK1 SHH
14 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 GLI3 MKKS SHH
15 vision/eye MP:0005391 9.36 BBS1 BBS2 BBS4 CCND2 DYNC2H1 GLI3
Sources

Drugs & Therapeutics for Polydactyly

About this section

Drugs for Polydactyly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Not Applicable 13422-51-0 15589840 11953898
2
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
3
leucovorin Approved Not Applicable 58-05-9 143 6006
4
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
5
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
6
Cobalamin Experimental Not Applicable 13408-78-1 6857388
7 Insulin, Globin Zinc
8 insulin
9 Liver Extracts
10 Vitamin B9 Not Applicable
11 Vitamin B Complex Not Applicable
12 Nutrients Not Applicable
13 Trace Elements Not Applicable
14 Vitamin B12 Not Applicable
15 Micronutrients Not Applicable
16 Folate Not Applicable
17 Vitamins Not Applicable
18 Vitamin B 12 Not Applicable
19 Hematinics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reconstructive of Multiple-digit Soft-tissue Defects Using Regional Dorsal Digital Flaps Completed NCT03717220 Not Applicable
2 Triphalangeal Thumbs in the Pediatric Population: Long Term Outcomes Following Surgical Intervention Completed NCT01409980
3 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
4 Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Terminated NCT00078091
5 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
6 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
7 Visualize Nociceptor Changes in Neuropathic Human Not yet recruiting NCT03112057 Not Applicable
8 Effectiveness of Comprehensive Tertiary Interventions on Incidence and Clinical Outcomes of Birth Defects Recruiting NCT03725878 Not Applicable

Search NIH Clinical Center for Polydactyly

Cochrane evidence based reviews: polydactyly

Sources

Genetic Tests for Polydactyly

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Genetic tests related to Polydactyly:

# Genetic test Affiliating Genes
1 Polydactyly 30
Sources

Anatomical Context for Polydactyly

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MalaCards organs/tissues related to Polydactyly:

42
Heart, Bone, Kidney, Tongue, Brain, Skin, Pituitary
Sources

Publications for Polydactyly

About this section

Articles related to Polydactyly:

(show top 50) (show all 1000)
# Title Authors Year
1
Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations. ( 31055587 )
2019
2
Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin. ( 29587601 )
2019
3
A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction. ( 30107244 )
2019
4
Radial polydactyly: putting together evolution, development and clinical anatomy. ( 30376762 )
2019
5
Surgical treatment of polydactyly and syndactyly during the 4th century AD. ( 30388389 )
2019
6
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. ( 30395363 )
2019
7
Accurate Osteotomy for the Treatment of a Rare Case of Postaxial Polydactyly of the Foot That Originated From a Deformed Calcaneus Using a 3D-Printed Guiding Plate. ( 30448182 )
2019
8
Wassel type III polydactyly. ( 30559920 )
2019
9
Large preaxial polydactyly with intraepidermal bulla: an unusual form of polydactyly. ( 30610036 )
2019
10
A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. ( 30620395 )
2019
11
Variant metatarsal morphology causing metatarsal deformation in postaxial polydactyly. ( 30699465 )
2019
12
Clinical Findings and Treatments of a Radially Deviated Type of Thumb Polydactyly. ( 30760140 )
2019
13
A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis. ( 30767287 )
2019
14
Novel GLI3 mutations in Chinese patients with non-syndromic post-axial polydactyly. ( 30848202 )
2019
15
Long-Term Clinical and Radiographic Follow-Up of Preaxial Polydactyly Reconstruction. ( 30853062 )
2019
16
Maternal occupational exposure to chemicals in the textile factory during pregnancy is associated with a higher risk of polydactyly in the offspring. ( 30856359 )
2019
17
Characterization of polydactyly chondrocytes and their use in cartilage engineering. ( 30862915 )
2019
18
Postaxial polydactyly of the hand in Japanese patients: Case series reports. ( 30898504 )
2019
19
Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb. ( 30945277 )
2019
20
Midterm and Long-term Follow-up After Surgical Reconstruction for Lateral Polydactyly of the Foot With Mosaic-like Alignment of the Phalanx Bones. ( 30950938 )
2019
21
An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report. ( 30954069 )
2019
22
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. ( 30982135 )
2019
23
Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing. ( 30993914 )
2019
24
Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study. ( 31091006 )
2019
25
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ( 29127258 )
2018
26
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. ( 30073714 )
2018
27
Empty sella associated with growth hormone deficiency and polydactyly. ( 29940653 )
2018
28
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. ( 29642246 )
2018
29
A familial syndrome of hypothalamic hamartomas, polydactyly, and SMO mutations: a clinical report of 2 cases. ( 30497210 )
2018
30
Firm Elevation of Reconstructed Auricle Using Polydactyly Digit in Microtia. ( 29135725 )
2018
31
Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis. ( 29651423 )
2018
32
Visual Diagnosis: Visual Impairment, Polydactyly, and Obesity: Red Flags in a Child. ( 29716976 )
2018
33
A threshold model for polydactyly. ( 29739620 )
2018
34
Complete First Ray Polydactyly: A Case Report. ( 29748102 )
2018
35
A rare case of ulnar polydactyly. ( 29806522 )
2018
36
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications. ( 29876959 )
2018
37
Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy. ( 29982567 )
2018
38
Synchronous Chiari III Malformation and Polydactyly. ( 30059779 )
2018
39
Corrigendum to "Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome" [Taiwanese Journal of Obstetrics & Gynecology 56 (2017) 857-862]. ( 30122595 )
2018
40
Mutational Screening of GLI3, SHH, and SHH ZRS in 78 Chinese Children with Nonsyndromic Polydactyly. ( 30235038 )
2018
41
Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound. ( 30342663 )
2018
42
Early prenatal detection of short-rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy. ( 30375052 )
2018
43
To Tie or Not to Tie: A Systematic Review of Postaxial Polydactyly and Outcomes of Suture Ligation Versus Surgical Excision. ( 30417703 )
2018
44
A Case of Thumb Polydactyly which Ulnar Thumb Has No Active Motion in Ring Chromosome 4. ( 30428788 )
2018
45
Clinical Genetics of Polydactyly: An Updated Review. ( 30459804 )
2018
46
Transposition of Duplicated Thumb for Reconstruction of Asymmetric Radial Polydactyly. ( 30461458 )
2018
47
A Case of Single Atrium, Mitral Valve Prolapse Spontaneously - Closed Inlet VSD with Polydactyly. ( 30487512 )
2018
48
A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly. ( 30562203 )
2018
49
Foot Function in Patients With Surgically Treated Preaxial Polydactyly of the Foot Compared With Age- and Sex-Matched Healthy Controls. ( 30569754 )
2018
50
Mesenchymal stromal cells from infants with simple polydactyly modulate immune responses more efficiently than adult mesenchymal stromal cells. ( 30595353 )
2018
Sources

Variations for Polydactyly

About this section

ClinVar genetic disease variations for Polydactyly:

6 (show top 50) (show all 300)
# Gene Variation Type Significance SNP ID Assembly Location
1 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 GRCh37 Chromosome 17, 56283840: 56283840
2 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 GRCh38 Chromosome 17, 58206479: 58206479
3 GLI3 NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 GRCh37 Chromosome 7, 42007446: 42007446
4 GLI3 NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 GRCh38 Chromosome 7, 41967848: 41967848
5 GLI3 NM_000168.5(GLI3): c.3083G> T (p.Ser1028Ile) single nucleotide variant Benign/Likely benign rs79049330 GRCh37 Chromosome 7, 42005588: 42005588
6 GLI3 NM_000168.5(GLI3): c.3083G> T (p.Ser1028Ile) single nucleotide variant Benign/Likely benign rs79049330 GRCh38 Chromosome 7, 41965990: 41965990
7 GLI3 NM_000168.5(GLI3): c.3084C> T (p.Ser1028=) single nucleotide variant Benign/Likely benign rs79703713 GRCh37 Chromosome 7, 42005587: 42005587
8 GLI3 NM_000168.5(GLI3): c.3084C> T (p.Ser1028=) single nucleotide variant Benign/Likely benign rs79703713 GRCh38 Chromosome 7, 41965989: 41965989
9 GLI3 NM_000168.5(GLI3): c.2826G> C (p.Pro942=) single nucleotide variant Benign/Likely benign rs34245321 GRCh37 Chromosome 7, 42005845: 42005845
10 GLI3 NM_000168.5(GLI3): c.2826G> C (p.Pro942=) single nucleotide variant Benign/Likely benign rs34245321 GRCh38 Chromosome 7, 41966247: 41966247
11 GLI3 NM_000168.5(GLI3): c.3664C> T (p.Pro1222Ser) single nucleotide variant Benign/Likely benign rs118149040 GRCh37 Chromosome 7, 42005007: 42005007
12 GLI3 NM_000168.5(GLI3): c.3664C> T (p.Pro1222Ser) single nucleotide variant Benign/Likely benign rs118149040 GRCh38 Chromosome 7, 41965409: 41965409
13 GLI3 NM_000168.5(GLI3): c.2835G> C (p.Leu945=) single nucleotide variant Benign/Likely benign rs61758978 GRCh37 Chromosome 7, 42005836: 42005836
14 GLI3 NM_000168.5(GLI3): c.2835G> C (p.Leu945=) single nucleotide variant Benign/Likely benign rs61758978 GRCh38 Chromosome 7, 41966238: 41966238
15 GLI3 NM_000168.5(GLI3): c.1207G> A (p.Val403Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201070431 GRCh38 Chromosome 7, 42026234: 42026234
16 GLI3 NM_000168.5(GLI3): c.1207G> A (p.Val403Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201070431 GRCh37 Chromosome 7, 42065833: 42065833
17 MKS1 NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del) deletion Pathogenic/Likely pathogenic rs754279998 GRCh37 Chromosome 17, 56285514: 56285516
18 MKS1 NM_017777.3(MKS1): c.1115_1117delCCT (p.Ser372del) deletion Pathogenic/Likely pathogenic rs754279998 GRCh38 Chromosome 17, 58208153: 58208155
19 GLI3 NM_000168.5(GLI3): c.*30G> T single nucleotide variant Benign/Likely benign rs77886553 GRCh37 Chromosome 7, 42003898: 42003898
20 GLI3 NM_000168.5(GLI3): c.*30G> T single nucleotide variant Benign/Likely benign rs77886553 GRCh38 Chromosome 7, 41964300: 41964300
21 GLI3 NM_000168.5(GLI3): c.*11A> G single nucleotide variant Likely benign rs139896177 GRCh37 Chromosome 7, 42003917: 42003917
22 GLI3 NM_000168.5(GLI3): c.*11A> G single nucleotide variant Likely benign rs139896177 GRCh38 Chromosome 7, 41964319: 41964319
23 GLI3 NM_000168.5(GLI3): c.4609C> T (p.Arg1537Cys) single nucleotide variant Benign/Likely benign rs35364414 GRCh37 Chromosome 7, 42004062: 42004062
24 GLI3 NM_000168.5(GLI3): c.4609C> T (p.Arg1537Cys) single nucleotide variant Benign/Likely benign rs35364414 GRCh38 Chromosome 7, 41964464: 41964464
25 GLI3 NM_000168.5(GLI3): c.4071C> T (p.Tyr1357=) single nucleotide variant Benign rs34089404 GRCh38 Chromosome 7, 41965002: 41965002
26 GLI3 NM_000168.5(GLI3): c.4071C> T (p.Tyr1357=) single nucleotide variant Benign rs34089404 GRCh37 Chromosome 7, 42004600: 42004600
27 GLI3 NM_000168.5(GLI3): c.4020C> T (p.Pro1340=) single nucleotide variant Benign/Likely benign rs35139358 GRCh37 Chromosome 7, 42004651: 42004651
28 GLI3 NM_000168.5(GLI3): c.4020C> T (p.Pro1340=) single nucleotide variant Benign/Likely benign rs35139358 GRCh38 Chromosome 7, 41965053: 41965053
29 GLI3 NM_000168.5(GLI3): c.4007G> A (p.Gly1336Glu) single nucleotide variant Benign/Likely benign rs35280470 GRCh37 Chromosome 7, 42004664: 42004664
30 GLI3 NM_000168.5(GLI3): c.4007G> A (p.Gly1336Glu) single nucleotide variant Benign/Likely benign rs35280470 GRCh38 Chromosome 7, 41965066: 41965066
31 GLI3 NM_000168.5(GLI3): c.3894G> A (p.Pro1298=) single nucleotide variant Likely benign rs530418832 GRCh37 Chromosome 7, 42004777: 42004777
32 GLI3 NM_000168.5(GLI3): c.3894G> A (p.Pro1298=) single nucleotide variant Likely benign rs530418832 GRCh38 Chromosome 7, 41965179: 41965179
33 GLI3 NM_000168.5(GLI3): c.3774C> G (p.Leu1258=) single nucleotide variant Benign/Likely benign rs35448119 GRCh37 Chromosome 7, 42004897: 42004897
34 GLI3 NM_000168.5(GLI3): c.3774C> G (p.Leu1258=) single nucleotide variant Benign/Likely benign rs35448119 GRCh38 Chromosome 7, 41965299: 41965299
35 GLI3 NM_000168.5(GLI3): c.2993C> T (p.Pro998Leu) single nucleotide variant Benign rs929387 GRCh38 Chromosome 7, 41966080: 41966080
36 GLI3 NM_000168.5(GLI3): c.2993C> T (p.Pro998Leu) single nucleotide variant Benign rs929387 GRCh37 Chromosome 7, 42005678: 42005678
37 GLI3 NM_000168.5(GLI3): c.1509C> T (p.Asn503=) single nucleotide variant Benign/Likely benign rs34020684 GRCh37 Chromosome 7, 42018336: 42018336
38 GLI3 NM_000168.5(GLI3): c.1509C> T (p.Asn503=) single nucleotide variant Benign/Likely benign rs34020684 GRCh38 Chromosome 7, 41978737: 41978737
39 GLI3 NM_000168.5(GLI3): c.1393G> C (p.Gly465Arg) single nucleotide variant Benign/Likely benign rs35488756 GRCh37 Chromosome 7, 42063171: 42063171
40 GLI3 NM_000168.5(GLI3): c.1393G> C (p.Gly465Arg) single nucleotide variant Benign/Likely benign rs35488756 GRCh38 Chromosome 7, 42023572: 42023572
41 GLI3 NM_000168.5(GLI3): c.1356+11G> C single nucleotide variant Benign rs846273 GRCh37 Chromosome 7, 42064852: 42064852
42 GLI3 NM_000168.5(GLI3): c.1356+11G> C single nucleotide variant Benign rs846273 GRCh38 Chromosome 7, 42025253: 42025253
43 GLI3 NM_000168.5(GLI3): c.1029-11C> T single nucleotide variant Benign/Likely benign rs116195563 GRCh37 Chromosome 7, 42066022: 42066022
44 GLI3 NM_000168.5(GLI3): c.1029-11C> T single nucleotide variant Benign/Likely benign rs116195563 GRCh38 Chromosome 7, 42026423: 42026423
45 GLI3 NM_000168.5(GLI3): c.1029-16dupT duplication Likely benign rs559579130 GRCh37 Chromosome 7, 42066027: 42066027
46 GLI3 NM_000168.5(GLI3): c.1029-16dupT duplication Likely benign rs559579130 GRCh38 Chromosome 7, 42026428: 42026428
47 GLI3 NM_000168.5(GLI3): c.900C> T (p.Ser300=) single nucleotide variant Benign rs35961850 GRCh38 Chromosome 7, 42040166: 42040166
48 GLI3 NM_000168.5(GLI3): c.900C> T (p.Ser300=) single nucleotide variant Benign rs35961850 GRCh37 Chromosome 7, 42079765: 42079765
49 GLI3 NM_000168.5(GLI3): c.840C> G (p.Ser280=) single nucleotide variant Benign/Likely benign rs77084911 GRCh38 Chromosome 7, 42040226: 42040226
50 GLI3 NM_000168.5(GLI3): c.840C> G (p.Ser280=) single nucleotide variant Benign/Likely benign rs77084911 GRCh37 Chromosome 7, 42079825: 42079825

Copy number variations for Polydactyly from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 97909 16 14700000 16700000 Duplication or delet ion polydactyly
Sources

Expression for Polydactyly

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Search GEO for disease gene expression data for Polydactyly.
Sources

Pathways for Polydactyly

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Pathways related to Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Signaling by Hedgehog 67
Show member pathways
 12.19 DYNC2H1 GLI3 MKS1 SHH WDR35
2
Organelle biogenesis and maintenance 67
Show member pathways
 12.16 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 IFT81
3
Hedgehog Pathway 73
Show member pathways
 11.65 CCND2 GLI3 SHH
4
Cargo trafficking to the periciliary membrane 67
Show member pathways
 11.58 BBS1 BBS2 BBS4 MKKS TTC8
5
Intraflagellar transport 67
11.11 DYNC2H1 DYNC2LI1 IFT81 TCTEX1D2 WDR34 WDR35
6
Tgif disruption of Shh signaling 1
10.28 GLI3 SHH
Sources

GO Terms for Polydactyly

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Cellular components related to Polydactyly according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 motile cilium GO:0031514 9.97 BBS2 BBS4 DYNC2H1 DYNC2LI1 IFT81 MKKS
2 axoneme GO:0005930 9.91 BBS1 DYNC2H1 DYNC2LI1 GLI3 TCTEX1D2 WDR34
3 ciliary membrane GO:0060170 9.83 BBS1 BBS2 BBS4 TTC8
4 dynein complex GO:0030286 9.81 DYNC2H1 DYNC2LI1 WDR34 WDR60
5 cytoplasmic dynein complex GO:0005868 9.8 DYNC2H1 DYNC2LI1 TCTEX1D2 WDR34 WDR60
6 BBSome GO:0034464 9.76 BBS1 BBS2 BBS4 TTC8
7 centriole GO:0005814 9.75 BBS4 MKS1 WDR34
8 ciliary base GO:0097546 9.74 GLI3 TCTEX1D2 WDR60
9 cilium GO:0005929 9.73 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI3
10 ciliary transition zone GO:0035869 9.72 BBS4 DYNC2LI1 MKS1
11 pericentriolar material GO:0000242 9.71 BBS4 NEK1 WDR60
12 ciliary tip GO:0097542 9.7 DYNC2H1 DYNC2LI1 GLI3 IFT81 WDR34 WDR35
13 interphase microtubule organizing center GO:0031021 9.56 TCTEX1D2 WDR60
14 ciliary basal body GO:0036064 9.32 BBS1 BBS2 BBS4 DYNC2LI1 IFT81 MKKS
15 cytoskeleton GO:0005856 10.22 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 MKKS
16 cell projection GO:0042995 10.1 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 GLI3
17 microtubule organizing center GO:0005815 10.09 BBS1 BBS2 BBS4 DYNC2LI1 MKKS MKS1
18 centrosome GO:0005813 10 BBS1 BBS4 DYNC2LI1 IFT81 MKKS MKS1

Biological processes related to Polydactyly according to GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 DYNC2H1 GLI3 MKKS SHH
2 visual perception GO:0007601 9.96 BBS1 BBS2 BBS4 MKKS
3 fat cell differentiation GO:0045444 9.87 BBS2 BBS4 MKKS TTC8
4 microtubule-based movement GO:0007018 9.85 DYNC2H1 WDR34 WDR60
5 cerebral cortex development GO:0021987 9.84 BBS2 BBS4 MKKS
6 forebrain development GO:0030900 9.84 DYNC2H1 GLI3 SHH
7 hippocampus development GO:0021766 9.84 BBS2 BBS4 GLI3 MKKS
8 heart looping GO:0001947 9.83 BBS4 MKKS SHH
9 embryonic digit morphogenesis GO:0042733 9.83 GLI3 LMBR1 MKS1 SHH
10 embryonic limb morphogenesis GO:0030326 9.82 DYNC2H1 GLI3 SHH
11 negative regulation of GTPase activity GO:0034260 9.82 BBS4 MKKS TTC8
12 dorsal/ventral pattern formation GO:0009953 9.8 DYNC2H1 GLI3 SHH
13 positive regulation of multicellular organism growth GO:0040018 9.8 BBS2 BBS4 MKKS
14 cilium assembly GO:0060271 9.8 BBS1 BBS2 BBS4 DYNC2H1 DYNC2LI1 IFT81
15 branching morphogenesis of an epithelial tube GO:0048754 9.77 GLI3 MKS1 SHH
16 brain morphogenesis GO:0048854 9.77 BBS2 BBS4 MKKS
17 melanosome transport GO:0032402 9.76 BBS2 BBS4 MKKS
18 photoreceptor cell maintenance GO:0045494 9.76 BBS1 BBS2 BBS4 MKKS
19 spinal cord motor neuron differentiation GO:0021522 9.75 DYNC2H1 GLI3 SHH
20 regulation of stress fiber assembly GO:0051492 9.73 BBS4 MKKS TTC8
21 intraciliary transport involved in cilium assembly GO:0035735 9.73 DYNC2H1 DYNC2LI1 IFT81 WDR34 WDR35 WDR60
22 striatum development GO:0021756 9.72 BBS2 BBS4 MKKS
23 determination of left/right symmetry GO:0007368 9.72 DYNC2H1 DYNC2LI1 MKKS MKS1 SHH
24 regulation of smoothened signaling pathway GO:0008589 9.71 IFT81 MKS1
25 anatomical structure formation involved in morphogenesis GO:0048646 9.71 GLI3 SHH
26 limb morphogenesis GO:0035108 9.71 GLI3 ZNF141
27 inner ear receptor cell stereocilium organization GO:0060122 9.71 MKS1 TTC8
28 protein localization to cilium GO:0061512 9.71 BBS1 BBS4 DYNC2H1 WDR35
29 positive regulation of neuroblast proliferation GO:0002052 9.7 GLI3 SHH
30 vasodilation GO:0042311 9.7 BBS2 MKKS
31 protein localization to organelle GO:0033365 9.7 BBS2 BBS4
32 embryonic digestive tract morphogenesis GO:0048557 9.7 GLI3 SHH
33 non-motile cilium assembly GO:1905515 9.7 BBS1 BBS2 BBS4 DYNC2H1 MKKS MKS1
34 face development GO:0060324 9.69 BBS4 MKKS
35 negative regulation of actin filament polymerization GO:0030837 9.69 BBS4 MKKS
36 embryonic morphogenesis GO:0048598 9.69 GLI3 SHH
37 intraciliary retrograde transport GO:0035721 9.69 DYNC2H1 DYNC2LI1 WDR35
38 prostate gland development GO:0030850 9.68 GLI3 SHH
39 negative thymic T cell selection GO:0045060 9.68 GLI3 SHH
40 artery smooth muscle contraction GO:0014824 9.67 BBS2 MKKS
41 positive regulation of alpha-beta T cell differentiation GO:0046638 9.67 GLI3 SHH
42 response to leptin GO:0044321 9.67 BBS2 BBS4 MKKS
43 artery development GO:0060840 9.66 GLI3 SHH
44 leptin-mediated signaling pathway GO:0033210 9.65 BBS2 BBS4 MKKS
45 spinal cord dorsal/ventral patterning GO:0021513 9.64 GLI3 SHH
46 hindgut morphogenesis GO:0007442 9.63 GLI3 SHH
47 negative regulation of alpha-beta T cell differentiation GO:0046639 9.62 GLI3 SHH
48 sensory processing GO:0050893 9.61 BBS4 TTC8
49 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.61 BBS2 BBS4 MKKS
50 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.54 BBS2 BBS4 MKKS

Molecular functions related to Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light chain binding GO:0045503 9.33 DYNC2H1 WDR34 WDR60
2 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.32 DYNC2H1 DYNC2LI1
3 patched binding GO:0005113 9.26 BBS1 SHH
4 dynein heavy chain binding GO:0045504 9.13 DYNC2LI1 WDR34 WDR60
5 RNA polymerase II repressing transcription factor binding GO:0001103 9.02 BBS1 BBS2 BBS4 MKKS TTC8
6 protein binding GO:0005515 10.27 BBS1 BBS2 BBS4 CCND2 DYNC2LI1 GLI3
Sources

Sources for Polydactyly

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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